Mutagenetix > Incidental Mutation

Incidental Mutation 'R3794:Scaf8'

272704

Institutional Source

Beutler Lab

Gene Symbol

Scaf8

Ensembl Gene

ENSMUSG00000046201

Gene Name

SR-related CTD-associated factor 8

Synonyms

Rbm16, A630086M08Rik, A930036P18Rik

MMRRC Submission

040756-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.761) question?

Stock #

R3794 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

3165247-3249134 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 3240524 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 632 (E632G)

Ref Sequence

ENSEMBL: ENSMUSP00000076024 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076734]

AlphaFold

Q6DID3

Predicted Effect

probably damaging
Transcript: ENSMUST00000076734
AA Change: E632G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000076024
Gene: ENSMUSG00000046201
AA Change: E632G

Domain	Start	End	E-Value	Type
RPR	6	136	1.26e-42	SMART
low complexity region	157	171	N/A	INTRINSIC
low complexity region	193	223	N/A	INTRINSIC
low complexity region	232	251	N/A	INTRINSIC
low complexity region	271	282	N/A	INTRINSIC
low complexity region	305	326	N/A	INTRINSIC
low complexity region	363	380	N/A	INTRINSIC
low complexity region	397	462	N/A	INTRINSIC
RRM	478	547	9.2e-14	SMART
low complexity region	644	677	N/A	INTRINSIC
low complexity region	685	712	N/A	INTRINSIC
low complexity region	857	883	N/A	INTRINSIC
low complexity region	941	953	N/A	INTRINSIC
low complexity region	962	971	N/A	INTRINSIC
low complexity region	1027	1044	N/A	INTRINSIC
internal_repeat_1	1048	1064	2e-5	PROSPERO
internal_repeat_1	1059	1075	2e-5	PROSPERO
low complexity region	1146	1168	N/A	INTRINSIC
low complexity region	1249	1268	N/A	INTRINSIC

Meta Mutation Damage Score

0.0874

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.4%

Validation Efficiency

97% (37/38)

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy6	C	T	15: 98,496,824 (GRCm39)	V482I	probably damaging	Het
Adgrv1	T	A	13: 81,431,486 (GRCm39)	M1L	probably damaging	Het
Ceacam13	A	G	7: 17,747,340 (GRCm39)	*264W	probably null	Het
Dennd5b	A	T	6: 149,002,715 (GRCm39)	D31E	possibly damaging	Het
Dip2c	T	C	13: 9,654,597 (GRCm39)	V706A	probably damaging	Het
Enpp3	T	C	10: 24,707,630 (GRCm39)		probably null	Het
Exoc4	T	G	6: 33,452,932 (GRCm39)	V474G	probably benign	Het
F2rl1	A	G	13: 95,649,719 (GRCm39)	Y388H	unknown	Het
Fasl	T	C	1: 161,609,306 (GRCm39)	R17G	probably benign	Het
Htr1a	G	A	13: 105,580,852 (GRCm39)	V31M	possibly damaging	Het
Inpp4b	T	C	8: 82,759,845 (GRCm39)	V445A	probably damaging	Het
Itih3	T	C	14: 30,640,351 (GRCm39)	Y319C	probably damaging	Het
Katnip	A	G	7: 125,419,261 (GRCm39)	N476S	probably benign	Het
Kmt2d	T	C	15: 98,735,240 (GRCm39)		probably benign	Het
Mobp	A	T	9: 119,997,033 (GRCm39)	K55*	probably null	Het
Ndufaf5	T	A	2: 140,044,843 (GRCm39)	M279K	possibly damaging	Het
Nlrc3	T	C	16: 3,765,739 (GRCm39)	I1057V	probably benign	Het
Or10al7	A	G	17: 38,365,786 (GRCm39)	Y224H	probably damaging	Het
Or4c112	G	T	2: 88,853,770 (GRCm39)	H192Q	probably benign	Het
Piezo2	C	T	18: 63,214,864 (GRCm39)	R1257Q	probably damaging	Het
Pigv	A	G	4: 133,392,502 (GRCm39)	S223P	possibly damaging	Het
Pkdcc	A	G	17: 83,531,382 (GRCm39)	T464A	probably damaging	Het
Polr2k	A	G	15: 36,175,193 (GRCm39)	I18V	probably damaging	Het
Pon3	A	G	6: 5,221,578 (GRCm39)	Y351H	probably benign	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Het
Smurf1	A	G	5: 144,837,985 (GRCm39)		probably null	Het
Tex16	T	G	X: 111,150,375 (GRCm39)	M1R	probably null	Het
Tln1	G	T	4: 43,536,295 (GRCm39)	A1999D	probably damaging	Het
Trgv5	A	T	13: 19,376,694 (GRCm39)	H47L	probably benign	Het
Ttn	C	T	2: 76,772,781 (GRCm39)	V2405I	possibly damaging	Het
Vps13d	G	A	4: 144,812,007 (GRCm39)		probably benign	Het
Xrcc1	A	G	7: 24,269,985 (GRCm39)	T469A	probably benign	Het
Zfp287	G	T	11: 62,605,070 (GRCm39)	H612Q	probably damaging	Het
Zfp352	C	T	4: 90,113,386 (GRCm39)	H509Y	probably damaging	Het

Other mutations in Scaf8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00496:Scaf8	APN	17	3,221,409 (GRCm39)	missense	unknown
IGL00956:Scaf8	APN	17	3,221,422 (GRCm39)	missense	unknown
IGL01610:Scaf8	APN	17	3,246,124 (GRCm39)	missense	probably damaging	1.00
IGL01967:Scaf8	APN	17	3,247,213 (GRCm39)	missense	possibly damaging	0.91
IGL02005:Scaf8	APN	17	3,236,145 (GRCm39)	missense	probably damaging	1.00
IGL03037:Scaf8	APN	17	3,240,496 (GRCm39)	missense	probably damaging	0.99
BB004:Scaf8	UTSW	17	3,209,495 (GRCm39)	missense	unknown
BB014:Scaf8	UTSW	17	3,209,495 (GRCm39)	missense	unknown
R0320:Scaf8	UTSW	17	3,228,530 (GRCm39)	missense	unknown
R0789:Scaf8	UTSW	17	3,247,112 (GRCm39)	missense	possibly damaging	0.94
R0850:Scaf8	UTSW	17	3,246,049 (GRCm39)	splice site	probably null
R0919:Scaf8	UTSW	17	3,247,395 (GRCm39)	missense	probably damaging	1.00
R1488:Scaf8	UTSW	17	3,247,872 (GRCm39)	missense	probably damaging	0.97
R1544:Scaf8	UTSW	17	3,195,429 (GRCm39)	missense	probably damaging	0.96
R1928:Scaf8	UTSW	17	3,218,352 (GRCm39)	missense	unknown
R1972:Scaf8	UTSW	17	3,219,646 (GRCm39)	missense	unknown
R2156:Scaf8	UTSW	17	3,214,407 (GRCm39)	splice site	probably null
R2164:Scaf8	UTSW	17	3,247,485 (GRCm39)	missense	probably damaging	1.00
R2680:Scaf8	UTSW	17	3,247,866 (GRCm39)	missense	possibly damaging	0.95
R4368:Scaf8	UTSW	17	3,221,470 (GRCm39)	missense	unknown
R4673:Scaf8	UTSW	17	3,248,260 (GRCm39)	missense	probably benign	0.04
R4694:Scaf8	UTSW	17	3,247,679 (GRCm39)	missense	probably damaging	1.00
R4716:Scaf8	UTSW	17	3,227,398 (GRCm39)	missense	unknown
R4852:Scaf8	UTSW	17	3,228,494 (GRCm39)	missense	unknown
R5036:Scaf8	UTSW	17	3,214,537 (GRCm39)	unclassified	probably benign
R5193:Scaf8	UTSW	17	3,240,440 (GRCm39)	missense	probably benign	0.02
R5429:Scaf8	UTSW	17	3,247,385 (GRCm39)	missense	probably benign	0.14
R5816:Scaf8	UTSW	17	3,227,988 (GRCm39)	missense	unknown
R6050:Scaf8	UTSW	17	3,218,383 (GRCm39)	missense	unknown
R6493:Scaf8	UTSW	17	3,221,394 (GRCm39)	missense	unknown
R6616:Scaf8	UTSW	17	3,218,330 (GRCm39)	missense	unknown
R7065:Scaf8	UTSW	17	3,209,486 (GRCm39)	missense	probably damaging	1.00
R7112:Scaf8	UTSW	17	3,213,304 (GRCm39)	missense	unknown
R7141:Scaf8	UTSW	17	3,209,457 (GRCm39)	missense	unknown
R7198:Scaf8	UTSW	17	3,213,373 (GRCm39)	missense	unknown
R7265:Scaf8	UTSW	17	3,227,900 (GRCm39)	missense	unknown
R7592:Scaf8	UTSW	17	3,221,497 (GRCm39)	critical splice donor site	probably null
R7711:Scaf8	UTSW	17	3,237,909 (GRCm39)	missense	probably damaging	0.97
R7813:Scaf8	UTSW	17	3,247,549 (GRCm39)	missense	probably damaging	1.00
R7867:Scaf8	UTSW	17	3,227,994 (GRCm39)	missense	unknown
R7927:Scaf8	UTSW	17	3,209,495 (GRCm39)	missense	unknown
R7937:Scaf8	UTSW	17	3,247,482 (GRCm39)	missense	probably damaging	0.99
R7958:Scaf8	UTSW	17	3,221,397 (GRCm39)	missense	unknown
R7960:Scaf8	UTSW	17	3,221,397 (GRCm39)	missense	unknown
R8024:Scaf8	UTSW	17	3,209,568 (GRCm39)	missense	unknown
R8118:Scaf8	UTSW	17	3,214,458 (GRCm39)	missense	unknown
R8285:Scaf8	UTSW	17	3,227,404 (GRCm39)	missense	unknown
R8303:Scaf8	UTSW	17	3,198,827 (GRCm39)	missense	unknown
R8365:Scaf8	UTSW	17	3,246,241 (GRCm39)	missense	possibly damaging	0.67
R8544:Scaf8	UTSW	17	3,213,295 (GRCm39)	unclassified	probably benign
R8768:Scaf8	UTSW	17	3,243,349 (GRCm39)	missense	probably benign	0.27
R9520:Scaf8	UTSW	17	3,248,285 (GRCm39)	missense	probably damaging	1.00
R9521:Scaf8	UTSW	17	3,248,285 (GRCm39)	missense	probably damaging	1.00
R9603:Scaf8	UTSW	17	3,246,070 (GRCm39)	missense	possibly damaging	0.80
R9622:Scaf8	UTSW	17	3,248,170 (GRCm39)	missense	probably benign	0.21
R9687:Scaf8	UTSW	17	3,221,410 (GRCm39)	missense	unknown
Z1088:Scaf8	UTSW	17	3,213,258 (GRCm39)	unclassified	probably benign
Z1177:Scaf8	UTSW	17	3,213,269 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GCCAGGGGTTTAGATGTAATGTAAATG -3'
(R):5'- AATCCTCCAAGTCCAAGGGC -3'

Sequencing Primer
(F):5'- TGGGAAAATGAACTGAAAAGCTGTG -3'
(R):5'- AGGGCACTGCAACCTTCATG -3'

Posted On

2015-03-25